Canonical Allele Identifier: CA352695688
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2241627
dbSNP Id: rs1268541922
gnomAD v3: 3-49123185-C-G
gnomAD v4: 3-49123185-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123185C>G , CM000665.2:g.49123185C>G GRCh38
NC_000003.11:g.49160618C>G , CM000665.1:g.49160618C>G GRCh37
NC_000003.10:g.49135622C>G NCBI36
NG_008094.1:g.14982G>C
NG_054716.1:g.2754G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305544.9:c.4171G>C MANE Select ENSP00000307156.4:p.Gly1391Arg
ENST00000305544.8:c.4171G>C ENSP00000307156.4:p.Gly1391Arg
ENST00000418109.5:c.4171G>C ENSP00000388325.1:p.Gly1391Arg
ENST00000469665.1:n.401G>C
NM_002292.3:c.4171G>C NP_002283.3:p.Gly1391Arg
XM_005265127.3:c.4171G>C XP_005265184.1:p.Gly1391Arg
XM_005265127.4:c.4171G>C XP_005265184.1:p.Gly1391Arg
NM_002292.4:c.4171G>C MANE Select NP_002283.3:p.Gly1391Arg